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Paper Plethora


Blond Melanesians
Kenny EE, Timpson NJ, Sikora M, et al. (2012). Melanesian blond hair is caused by an amino acid change in TYRP1. Science. Epub: doi 10.1126/science.1217849.

A team led by researchers at Stanford University reports that an amino acid change results in blond hair in Solomon Islanders. Natural blond hair is typically found in Europe and Oceania and, in this study, the team identifies an arginine-to-cysteine change at a highly conserved residue in TYRP1 as a major determinant of the trait in people from the Solomon Islands. The mutation has a 26 percent frequency within the population, the researchers write, adding that "this missense mutation is predicted to affect catalytic activity of TYRP1 and causes blond hair through a recessive mode of inheritance."

Many Tumor Types
Curtis C, Shah SP, Chin SF, et al. (2012). The genomic and transcriptomic architecture of 2,000 breast tumors reveals novel subgroups. Nature. Epub: doi 10.1038/nature10983.

In this study, the University of Cambridge's Christina Curtis et al. analyze the genomes and transcriptomes of 2,000 breast tumors and describe a method for molecular stratification of the disease. The researchers say that inherited variants and acquired somatic copy number aberrations are associated with expression in about 40 percent of genes in the tumors they studied, "with the landscape dominated by cis- and trans-acting [copy-number alterations]." The researchers say that their analysis also revealed novel distinct subgroups of breast cancer, adding that the condition can be broken down into 10 distinct diseases.

Height SNPs
Jarvis JP, Scheinfeldt LB, Soi S, et al. (2012). Patterns of ancestry, signatures of natural selection, and genetic association with stature in Western African Pygmies. PLoS Genetics. 8(4): e1002641.

In search of genetic factors influencing human height, a team led by the University of Pennsylvania's Sarah Tishkoff scanned the genomes of people from Western African Pygmy groups in Cameroon and from taller, Bantu-speaking people in neighboring areas, with whom the Pygmies have admixed. The researchers identified multiple genomic regions that may contain SNPs related to height in those populations. "The most striking results are found on chromosome 3," the team writes. "This region also includes the positional candidate genes DOCK3, which is known to be associated with height variation in Europeans, and CISH, a negative regulator of cytokine signaling known to inhibit growth hormone-stimulated STAT5 signaling."

LncRNA Stability
Clark MB, Johnston RL, Inostroza-Ponta M, et al. (2012). Genome-wide analysis of long noncoding RNA stability. Genome Research. 22: 885-898.

The University of Queensland's Michael Clark and his colleagues report on their genome-wide analysis of the stability of long non-coding RNAs. They used a custom non-coding RNA array to determine the half-lives of around 800 lncRNAs and approximately 12,000 mRNAs in the mouse Neuro-2a cell line. From this, the researchers found that only a small number of lncRNAs are unstable. They also report that "lncRNA half-lives vary over a wide range, comparable to, although on average less than, that of mRNAs, suggestive of complex metabolism and widespread functionality." The team also developed an online inter-active resource that allows users to navigate lncRNA and mRNA stability profiles, which is now available at

The Scan

Self-Reported Hearing Loss in Older Adults Begins Very Early in Life, Study Says

A JAMA Otolaryngology — Head & Neck Surgery study says polygenic risk scores associated with hearing loss in older adults is also associated with hearing decline in younger groups.

Genome-Wide Analysis Sheds Light on Genetics of ADHD

A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder.

MicroRNA Cotargeting Linked to Lupus

A mouse-based study appearing in BMC Biology implicates two microRNAs with overlapping target sites in lupus.

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.